| Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47. | Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.
Abrams CK., Free PMC Article | 05/23/2023 |
| Identi fi cation of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease. | Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.
Ji T, Li D, Wu Y, Xiao J, Ji H, Wu X, Wang J, Jiang Y. | 02/22/2023 |
| Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice. | Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice.
Geng X, Chen L, Srinivasan RS, Kylat RJ, Witte MH, Erickson RJ., Free PMC Article | 12/17/2022 |
| Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease. | Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.
Flores-Obando RE, Freidin MM, Hernández AI, Abrams CK. | 06/25/2022 |
| Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax. | Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
Schneider S, Köllges R, Stegmann JD, Thieme F, Hilger AC, Waffenschmidt L, Fazaal J, Kalanithy JC, Geipel A, Strizek B, Ludwig KU, Reutter H, Müller A. | 04/23/2022 |
| The expression of the transcription factors Foxc2 and Nfatc1 and the gap junction proteins Gjc2, Gja1, and Gja4 were temporospatially regulated during this process. | Human venous valve disease caused by mutations in FOXC2 and GJC2.
Lyons O, Saha P, Seet C, Kuchta A, Arnold A, Grover S, Rashbrook V, Sabine A, Vizcay-Barrena G, Patel A, Ludwinski F, Padayachee S, Kume T, Kwak BR, Brice G, Mansour S, Ostergaard P, Mortimer P, Jeffery S, Brown N, Makinen T, Petrova TV, Modarai B, Smith A., Free PMC Article | 02/1/2020 |
| Connexin 43-connexin 47 channels are important for astrocyte/ oligodendrocyte cross-talk in myelination and demyelination. (Review) | Connexin 43/47 channels are important for astrocyte/ oligodendrocyte cross-talk in myelination and demyelination.
Basu R, Sarma JD., Free PMC Article | 02/2/2019 |
| Different mutations in the Cx47 lead to discrepant activation of unfolded protein response (UPR) pathway, which encouraged apoptotic cell death at different levels. Inappropriate activation of UPR may play important roles in the pathophysiology of Pelizaeus-Merzbacher-Like Disease. | Different Mutations of Gap Junction Connexin 47 Lead to Discrepant Activation of Unfolded Protein Response Pathway in Pelizaeus-Merzbacher-Like Disease.
Chen N, Wang J, Jiang Y, Wu Y, Hao H, Ji T. | 08/4/2018 |
| GJC2 promoter region mutation screening should be included in the evaluation of patients with unexplained hypomyelinating leukodystrophies. | GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, Caldovic L, Hobson GM, Vanderver A., Free PMC Article | 02/14/2015 |
| we provide evidence that a mutation in GJA1 leads not only to ODD as already described in the literature, but can also lead to lymphoedema as an associated feature. | A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S. | 04/12/2014 |
| a novel homozygous mutation in GJC2 was identified in a 21-year-old female patient with Pelizaeus-Merzbacher-like disease | A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease.
Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, Yamamoto T. | 01/11/2014 |
| This study identified novel chromosomal rearrangements proximal and distal to, and exclusive of the PLP1 gene, showed equal frequencies of PLP1 and GJA12/GJC2 mutations | High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E., Free PMC Article | 07/13/2013 |
| Most of the Pelizaeus-Merzbacher-like disease (PMLD)-linked Cx47 mutants disrupt Cx47/Cx47 and Cx47/Cx43 GJ function in the glial network, which may play a role in leading to PMLD symptoms | The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions.
Kim MS, Gloor GB, Bai D. | 07/6/2013 |
| the extremely severe clinical Pelizaeus-Merzbacher-like disease form likely correlates with the predicted impairment of gap junction channel assembly resulting from the detrimental effect of the new p.Glu260Lys mutant allele on Cx47 protein | Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
Biancheri R, Rosano C, Denegri L, Lamantea E, Pinto F, Lanza F, Severino M, Filocamo M., Free PMC Article | 05/25/2013 |
| founder mutation c.-167A>G localized in the GJC2 protein promoter region in patients with Pelizaeus Merzbacher disease and Pelizaeus Merzbacher like disease | Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.
Kammoun Jellouli N, Salem IH, Ellouz E, Louhichi N, tlili A, Kammoun F, Triki C, Fakhfakh F, Tunisian Network on Mental Retardation Study. | 04/20/2013 |
| Cx47 mutations were identified in individuals having secondary lymphedema following breast cancer treatment; these novel mutations are dysfunctional and provide evidence that altered gap junction function leads to lymphedema | Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.
Finegold DN, Baty CJ, Knickelbein KZ, Perschke S, Noon SE, Campbell D, Karlsson JM, Huang D, Kimak MA, Lawrence EC, Feingold E, Meriney SD, Brufsky AM, Ferrell RE., Free PMC Article | 09/1/2012 |
| We report the identification of the GJC2 promoter mutation (c.-167A>G) in nine patients from three unrelated Pakistani families with Pelizaeus-Merzbacher-like disease. Linkage analysis was consistent with a likely founder effect of this mutation | Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER. | 03/17/2012 |
| Mutations within the GJC2 gene are associated with primary lymphoedema. | Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
Ostergaard P, Simpson MA, Brice G, Mansour S, Connell FC, Onoufriadis A, Child AH, Hwang J, Kalidas K, Mortimer PS, Trembath R, Jeffery S. | 07/30/2011 |
| The identification of GJC2 mutations as a cause of primary lymphedema | GJC2 missense mutations cause human lymphedema.
Ferrell RE, Baty CJ, Kimak MA, Karlsson JM, Lawrence EC, Franke-Snyder M, Meriney SD, Feingold E, Finegold DN., Free PMC Article | 07/5/2010 |
| GJA12 gene mutations reported from two Chinese Pelizaeus-Merzbacher-like disease patients | Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.
Wang J, Wang H, Wang Y, Chen T, Wu X, Jiang Y. | 05/3/2010 |
| She carried no GJA12 mutations. These facts suggested that this disease is a novel, autosomal recessive hypomyelinating leukodystrophy. | [A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype].
Ishikawa T, Sato K, Shimazaki R, Goto K, Matsuda T, Ishiura H. | 03/29/2010 |
| GJA12 alterations are a rare cause of Pelizaeus-Merzbacher-like disease even after extending the screening for copy number variation and for mutations in the non-coding region of GJA12. | Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.
Ruf N, Uhlenberg B. | 01/21/2010 |
| GJA12/GJC2 mutations can result in a milder phenotype than previously appreciated, but whether I33M retains a function of Cx47 not directly related to forming functional gap junction channels is not known. | Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D., Free PMC Article | 01/21/2010 |
| Patients from one family carrying a homozygous frameshift mutation in GJA12 presenting with nystagmus and brain demyelinating disease. | Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.
Wolf NI, Cundall M, Rutland P, Rosser E, Surtees R, Benton S, Chong WK, Malcolm S, Ebinger F, Bitner-Glindzicz M, Woodward KJ. | 01/21/2010 |
| The clinical phenotype of patients with a GJA12 mutation was evaluated and is overall comparable to the clinical features seen in mild forms of PLP1-related disorder but with better cognition and earlier signs of axonal degeneration. | GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J. | 01/21/2010 |